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Variant : CV19909 (FOXL2, 15-BP DUP, NT684) Homo sapiens

Symbol: CV19909
Name: FOXL2, 15-BP DUP, NT684
Condition: Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 [RCV000005146]
Clinical Significance: pathogenic
Last Evaluated: 04/17/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: FOXL2  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Nucleotide Change: 15-bp dup, nt684
Evidence: literature only
Position
Human AssemblyChrPosition (strand)Source
Cytogenetic Map33q23CLINVAR
Trait Synonyms: Blepharophimosis syndrome type 1; BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I; BPES I; BPES with ovarian failure



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8558325
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.